D26E (p.Asp26Glu) variant of PTPN11 (Q06124)
D26E (p.Asp26Glu) in PTPN11 (Q06124) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D26E (p.Asp26Glu) variant details
- p.Asp26Glu
- gnomAD 12-112446339-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.32
- MetaLR 0.52
- MetaSVM -0.38
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available